Smooth muscle dysfunction syndrome
|
Prevalence : < 1.106. De novo heterozygous mutation of the ACTA2 gene, at the level of Arg 179, (10q23.31) producing the association of:
There is a high risk of early death following an aortic dissection, a stroke or pulmonary complications.
Treatment: ACEI or inhibitors of the angiotensin II receptors
Anesthetic implications:
a) preoperatively:
b) intraoperatively:
c) operatively:
References :
- Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC Ades L et al.
Clinical history and management recommendations of the Smooth Muscle Dysfunction syndrome due to ACTA2 Arginine 179 alterations.
Genet Med 2018; 20: 1206-15.
- Houska N, Schafer M, Chatfield KC, Bernard TJ, Ing RJ.
Anesthetic considerations for children with multisystem smooth muscle dysfunction syndrome and review of the literature.
J Cardiothor Vasc Anesth 2022, 2022, 36 : 3205-11
Update September 2022